Canonical Allele Identifier: CA232300388
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs71582894
gnomAD v2: 12-6153343-G-A
gnomAD v3: 12-6044177-G-A
gnomAD v4: 12-6044177-G-A
MyVariant Identifiers: chr12:g.6153343G>A (hg19) chr12:g.6044177G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6044177G>A , CM000674.2:g.6044177G>A GRCh38
NC_000012.11:g.6153343G>A , CM000674.1:g.6153343G>A GRCh37
NC_000012.10:g.6023604G>A NCBI36
NG_009072.1:g.85494C>T
NG_009072.2:g.85494C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2442+114C>T MANE Select ENSP00000261405.5:n.2442+114C>T
ENST00000261405.9:c.2442+114C>T ENSP00000261405.5:n.2442+114C>T
ENST00000538635.5:n.421-50243C>T
NM_000552.3:c.2442+114C>T NP_000543.2:n.2442+114C>T
NM_000552.4:c.2442+114C>T NP_000543.2:n.2442+114C>T
NM_000552.5:c.2442+114C>T MANE Select NP_000543.3:n.2442+114C>T
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